Definition of Gallbladder agenesis

Gallbladder agenesis: This is a condition in which the gallbladder fails to develop. This happens in approximately one out of every 1,000 people.

Gallbladder agenesis is an isolated finding in more than two-thirds (70%) of people. The person with isolated gallbladder agenesis is healthy. No treatment is needed, and the prognosis (outlook) is excellent.

Gallbladder agenesis occurs in association with additional abnormalities in the remaining (30%) of cases which fall into two groups: one (9%) with atresia (failure of opening) of the bile ducts, and the other (21%) with normal bile ducts but distant abnormalities such as ventricular septal defect (a hole between the ventricles of the heart), imperforate anus (blind rectum with no anus), malrotation of the gut (failure of the intestines to rotate normally during embryonic development), renal agenesis (absence of a kidney), and syndactyly (fusion of fingers).

Agenesis of the gallbladder is most often a sporadic (unpredictable) occurrence with no clear cause. However, there are families in which the condition has occurred in several members suggesting that there are hereditary forms of gallbladder agenesis. Children with gallbladder agenesis plus distant malformations tend to have trisomy 13 or another chromosome abnormality that carries a poor prognosis.